A new Hb variant: Hb F Sardinia gamma75(E19) isole...[Acta Haematol. 1975]

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1: Acta Haematol. 1975;53(6):347-55.Links

A new Hb variant: Hb F Sardinia gamma75(E19) isoleucine leads to threonine found in a family with Hb G Philadelphia, beta-chain deficiency and a Lepore-like haemoglobin indistinguishable from Hb A2.

Grifoni V, Kamuzora H, Lehmann H, Charlesworth D.

A 59-year-old man with beta-thalassaemia major is unusually well. He has no beta-chains in his haemoglobin but is heterozygous for the genes responsible for alphaA and for alphaG Philadelphia. In addition he is also heterozygous for the genes responsible for gammaF and a new gamma-chain, gamma75(E19) Ile-Thr, named gammaF Sardinia. It was not possible to isolate the mutant gamma-chain, but from the overall ratios of Ggamma-:Agamma-Chain and gamma75 Ile : gamma75 Thr, it could be inferred that the mutation had presumably occured in the Ggamma-chain. Some of the propositus' siblings have high levels of Hb A2, and it is suggested that they possibly carry a gene for Lepore chain with the deltabeta-crossover after residue delta126.

PMID: 808940 [PubMed - indexed for MEDLINE]

Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine replaced by threonine at position 75 )E 19) of the gamma chain.
Hum Genet. 1976 Jun 29; 32(3):305-13.

[Hum Genet. 1976]
Studies of the proporation and synthesis of haemoblogin C Philadelphia in red cells of heterozygotes, a homozygote, and a heterozygote for both haemoglobin G and alpha thalassaemia.
Br J Haematol. 1976 Oct; 34(2):207-20.

[Br J Haematol. 1976]
Detection of the common Hb F Sardinia [A gamma (E19)Ile----Thr] variant by isoelectric focusing in normal newborns and in adults affected by elevated fetal hemoglobin syndromes.
Clin Chim Acta. 1991 May 15; 198(3):195-202.

[Clin Chim Acta. 1991]
The level of Hb F-Sardinia (alpha 2A gamma 2(75)Ile----Thr) in the fetal hemoglobin of Sardinian beta-thalassemic homozygotes determined by isoelectric focusing.
Am J Hematol. 1986 Apr; 21(4):367-76.

[Am J Hematol. 1986]
Globin chain synthesis in the greek type (A gamma) of hereditary persisitence of fetal haemoglobin.
Br J Haematol. 1975 Jan; 29(1):137-48.

[Br J Haematol. 1975]
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Cited by 3 PubMed Central articles

Delta beta (F)-thalassaemia in Sardinia.
Cao A, Melis MA, Galanello R, Angius A, Furbetta M, Giordano P, Bernini LF. J Med Genet. 1982 Jun; 19(3):184-92.

[J Med Genet. 1982]
Further studies of the frequency and significance of the Tgamma-chain of human fetal hemoglobin.
Schroeder WA, Huisman TH, Efremov GD, Shelton JR, Shelton JB, Phillips R, Reese A, Gravely M, Harrison JM, Lam H. J Clin Invest. 1979 Feb; 63(2):268-75.

[J Clin Invest. 1979]
Human T gamma globin chain is a variant of A gamma chain (A gamma Sardinia).
Saglio G, Ricco G, Mazza U, Camaschella C, Pich PG, Gianni AM, Gianazza E, Righetti PG, Giglioni B, Comi P, et al. Proc Natl Acad Sci U S A. 1979 Jul; 76(7):3420-4.

[Proc Natl Acad Sci U S A. 1979]

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A new Hb variant: Hb F Sardinia gamma75(E19) isoleucine leads to threonine found in a fami...A new Hb variant: Hb F Sardinia gamma75(E19) isoleucine leads to threonine found in a family with Hb G Philadelphia, beta-chain deficiency and a Lepore-like haemoglobin indistinguishable from Hb A2.

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A new Hb variant: Hb F Sardinia gamma75(E19) isoleucine leads to threonine found in a family with Hb G Philadelphia, beta-chain deficiency and a Lepore-like haemoglobin indistinguishable from Hb A2.

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Cited by 3 PubMed Central articles

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